| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37045486T>A | CA359504238 | NIPBL | c.6387T>A (p.Asn2129Lys) c.1-19092T>A (n.1-19092T>A) c.5643T>A (p.Asn1881Lys) c.6189T>A (p.Asn2063Lys) c.6006T>A (p.Asn2002Lys) c.5727T>A (p.Asn1909Lys) c.4770T>A (p.Asn1590Lys) c.4761T>A (p.Asn1587Lys) | |
| 5 | g.37045486T>C | CA443906748 | NIPBL | c.6387T>C (p.Asn2129=) c.1-19092T>C (n.1-19092T>C) c.5643T>C (p.Asn1881=) c.6189T>C (p.Asn2063=) c.6006T>C (p.Asn2002=) c.5727T>C (p.Asn1909=) c.4770T>C (p.Asn1590=) c.4761T>C (p.Asn1587=) | |
| 5 | g.37045486T>G | CA359504240 | NIPBL | c.6387T>G (p.Asn2129Lys) c.1-19092T>G (n.1-19092T>G) c.5643T>G (p.Asn1881Lys) c.6189T>G (p.Asn2063Lys) c.6006T>G (p.Asn2002Lys) c.5727T>G (p.Asn1909Lys) c.4770T>G (p.Asn1590Lys) c.4761T>G (p.Asn1587Lys) | |
| 5 | g.37045487A>C | CA359504243 | NIPBL | c.6388A>C (p.Asn2130His) c.1-19091A>C (n.1-19091A>C) c.5644A>C (p.Asn1882His) c.6190A>C (p.Asn2064His) c.6007A>C (p.Asn2003His) c.5728A>C (p.Asn1910His) c.4771A>C (p.Asn1591His) c.4762A>C (p.Asn1588His) | |
| 5 | g.37045487A>G | CA359504246 | NIPBL | c.6388A>G (p.Asn2130Asp) c.1-19091A>G (n.1-19091A>G) c.5644A>G (p.Asn1882Asp) c.6190A>G (p.Asn2064Asp) c.6007A>G (p.Asn2003Asp) c.5728A>G (p.Asn1910Asp) c.4771A>G (p.Asn1591Asp) c.4762A>G (p.Asn1588Asp) | |
| 5 | g.37045487A>T | CA359504249 | NIPBL | c.6388A>T (p.Asn2130Tyr) c.1-19091A>T (n.1-19091A>T) c.5644A>T (p.Asn1882Tyr) c.6190A>T (p.Asn2064Tyr) c.6007A>T (p.Asn2003Tyr) c.5728A>T (p.Asn1910Tyr) c.4771A>T (p.Asn1591Tyr) c.4762A>T (p.Asn1588Tyr) | |
| 5 | g.37045487_37045488insCACCCAAC | CA2765910819 | NIPBL | c.6388_6389insCACCCAAC (p.Asn2130ThrfsTer8) c.1-19091_1-19090insCACCCAAC (n.1-19091_1-19090insCACCCAAC) c.5644_5645insCACCCAAC (p.Asn1882ThrfsTer8) c.6190_6191insCACCCAAC (p.Asn2064ThrfsTer8) c.6007_6008insCACCCAAC (p.Asn2003ThrfsTer8) c.5728_5729insCACCCAAC (p.Asn1910ThrfsTer8) c.4771_4772insCACCCAAC (p.Asn1591ThrfsTer8) c.4762_4763insCACCCAAC (p.Asn1588ThrfsTer8) | |
| 5 | g.37045488A= | CA1539618494 | NIPBL | c.6389A= (p.Asn2130=) c.1-19090A= (n.1-19090A=) c.5645A= (p.Asn1882=) c.6191A= (p.Asn2064=) c.6008A= (p.Asn2003=) c.5729A= (p.Asn1910=) c.4772A= (p.Asn1591=) c.4763A= (p.Asn1588=) | |
| 5 | g.37045488A>C | CA359504257 | NIPBL | c.6389A>C (p.Asn2130Thr) c.1-19090A>C (n.1-19090A>C) c.5645A>C (p.Asn1882Thr) c.6191A>C (p.Asn2064Thr) c.6008A>C (p.Asn2003Thr) c.5729A>C (p.Asn1910Thr) c.4772A>C (p.Asn1591Thr) c.4763A>C (p.Asn1588Thr) | |
| 5 | g.37045488A>G | CA3236996 | NIPBL | c.6389A>G (p.Asn2130Ser) c.1-19090A>G (n.1-19090A>G) c.5645A>G (p.Asn1882Ser) c.6191A>G (p.Asn2064Ser) c.6008A>G (p.Asn2003Ser) c.5729A>G (p.Asn1910Ser) c.4772A>G (p.Asn1591Ser) c.4763A>G (p.Asn1588Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37045488A>T | CA359504253 | NIPBL | c.6389A>T (p.Asn2130Ile) c.1-19090A>T (n.1-19090A>T) c.5645A>T (p.Asn1882Ile) c.6191A>T (p.Asn2064Ile) c.6008A>T (p.Asn2003Ile) c.5729A>T (p.Asn1910Ile) c.4772A>T (p.Asn1591Ile) c.4763A>T (p.Asn1588Ile) | |
| 5 | g.37045489C>A | CA359504260 | NIPBL | c.6390C>A (p.Asn2130Lys) c.1-19089C>A (n.1-19089C>A) c.5646C>A (p.Asn1882Lys) c.6192C>A (p.Asn2064Lys) c.6009C>A (p.Asn2003Lys) c.5730C>A (p.Asn1910Lys) c.4773C>A (p.Asn1591Lys) c.4764C>A (p.Asn1588Lys) | |
| 5 | g.37045489C= | CA1539618498 | NIPBL | c.6390C= (p.Asn2130=) c.1-19089C= (n.1-19089C=) c.5646C= (p.Asn1882=) c.6192C= (p.Asn2064=) c.6009C= (p.Asn2003=) c.5730C= (p.Asn1910=) c.4773C= (p.Asn1591=) c.4764C= (p.Asn1588=) | |
| 5 | g.37045489C>G | CA359504262 | NIPBL | c.6390C>G (p.Asn2130Lys) c.1-19089C>G (n.1-19089C>G) c.5646C>G (p.Asn1882Lys) c.6192C>G (p.Asn2064Lys) c.6009C>G (p.Asn2003Lys) c.5730C>G (p.Asn1910Lys) c.4773C>G (p.Asn1591Lys) c.4764C>G (p.Asn1588Lys) | |
| 5 | g.37045489C>T | CA3236997 | NIPBL | c.6390C>T (p.Asn2130=) c.1-19089C>T (n.1-19089C>T) c.5646C>T (p.Asn1882=) c.6192C>T (p.Asn2064=) c.6009C>T (p.Asn2003=) c.5730C>T (p.Asn1910=) c.4773C>T (p.Asn1591=) c.4764C>T (p.Asn1588=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37045490A>C | CA359504266 | NIPBL | c.6391A>C (p.Thr2131Pro) c.1-19088A>C (n.1-19088A>C) c.5647A>C (p.Thr1883Pro) c.6193A>C (p.Thr2065Pro) c.6010A>C (p.Thr2004Pro) c.5731A>C (p.Thr1911Pro) c.4774A>C (p.Thr1592Pro) c.4765A>C (p.Thr1589Pro) | gnomAD v4 |
| 5 | g.37045490A>G | CA359504270 | NIPBL | c.6391A>G (p.Thr2131Ala) c.1-19088A>G (n.1-19088A>G) c.5647A>G (p.Thr1883Ala) c.6193A>G (p.Thr2065Ala) c.6010A>G (p.Thr2004Ala) c.5731A>G (p.Thr1911Ala) c.4774A>G (p.Thr1592Ala) c.4765A>G (p.Thr1589Ala) | gnomAD v4 |
| 5 | g.37045490A>T | CA359504271 | NIPBL | c.6391A>T (p.Thr2131Ser) c.1-19088A>T (n.1-19088A>T) c.5647A>T (p.Thr1883Ser) c.6193A>T (p.Thr2065Ser) c.6010A>T (p.Thr2004Ser) c.5731A>T (p.Thr1911Ser) c.4774A>T (p.Thr1592Ser) c.4765A>T (p.Thr1589Ser) | |
| 5 | g.37045491C>A | CA359504274 | NIPBL | c.6392C>A (p.Thr2131Asn) c.1-19087C>A (n.1-19087C>A) c.5648C>A (p.Thr1883Asn) c.6194C>A (p.Thr2065Asn) c.6011C>A (p.Thr2004Asn) c.5732C>A (p.Thr1911Asn) c.4775C>A (p.Thr1592Asn) c.4766C>A (p.Thr1589Asn) | |
| 5 | g.37045491C>G | CA359504280 | NIPBL | c.6392C>G (p.Thr2131Ser) c.1-19087C>G (n.1-19087C>G) c.5648C>G (p.Thr1883Ser) c.6194C>G (p.Thr2065Ser) c.6011C>G (p.Thr2004Ser) c.5732C>G (p.Thr1911Ser) c.4775C>G (p.Thr1592Ser) c.4766C>G (p.Thr1589Ser) | |
| 5 | g.37045491C>T | CA359504277 | NIPBL | c.6392C>T (p.Thr2131Ile) c.1-19087C>T (n.1-19087C>T) c.5648C>T (p.Thr1883Ile) c.6194C>T (p.Thr2065Ile) c.6011C>T (p.Thr2004Ile) c.5732C>T (p.Thr1911Ile) c.4775C>T (p.Thr1592Ile) c.4766C>T (p.Thr1589Ile) | |
| 5 | g.37045492T>A | CA443906775 | NIPBL | c.6393T>A (p.Thr2131=) c.1-19086T>A (n.1-19086T>A) c.5649T>A (p.Thr1883=) c.6195T>A (p.Thr2065=) c.6012T>A (p.Thr2004=) c.5733T>A (p.Thr1911=) c.4776T>A (p.Thr1592=) c.4767T>A (p.Thr1589=) | |
| 5 | g.37045492T>C | CA443906777 | NIPBL | c.6393T>C (p.Thr2131=) c.1-19086T>C (n.1-19086T>C) c.5649T>C (p.Thr1883=) c.6195T>C (p.Thr2065=) c.6012T>C (p.Thr2004=) c.5733T>C (p.Thr1911=) c.4776T>C (p.Thr1592=) c.4767T>C (p.Thr1589=) | |
| 5 | g.37045492T>G | CA443906779 | NIPBL | c.6393T>G (p.Thr2131=) c.1-19086T>G (n.1-19086T>G) c.5649T>G (p.Thr1883=) c.6195T>G (p.Thr2065=) c.6012T>G (p.Thr2004=) c.5733T>G (p.Thr1911=) c.4776T>G (p.Thr1592=) c.4767T>G (p.Thr1589=) | |
| 5 | g.37045493T>A | CA359504283 | NIPBL | c.6394T>A (p.Ser2132Thr) c.1-19085T>A (n.1-19085T>A) c.5650T>A (p.Ser1884Thr) c.6196T>A (p.Ser2066Thr) c.6013T>A (p.Ser2005Thr) c.5734T>A (p.Ser1912Thr) c.4777T>A (p.Ser1593Thr) c.4768T>A (p.Ser1590Thr) | |
| 5 | g.37045493T>C | CA359504286 | NIPBL | c.6394T>C (p.Ser2132Pro) c.1-19085T>C (n.1-19085T>C) c.5650T>C (p.Ser1884Pro) c.6196T>C (p.Ser2066Pro) c.6013T>C (p.Ser2005Pro) c.5734T>C (p.Ser1912Pro) c.4777T>C (p.Ser1593Pro) c.4768T>C (p.Ser1590Pro) | |
| 5 | g.37045493T>G | CA359504287 | NIPBL | c.6394T>G (p.Ser2132Ala) c.1-19085T>G (n.1-19085T>G) c.5650T>G (p.Ser1884Ala) c.6196T>G (p.Ser2066Ala) c.6013T>G (p.Ser2005Ala) c.5734T>G (p.Ser1912Ala) c.4777T>G (p.Ser1593Ala) c.4768T>G (p.Ser1590Ala) | |
| 5 | g.37045494C>A | CA359504290 | NIPBL | c.6395C>A (p.Ser2132Ter) c.1-19084C>A (n.1-19084C>A) c.5651C>A (p.Ser1884Ter) c.6197C>A (p.Ser2066Ter) c.6014C>A (p.Ser2005Ter) c.5735C>A (p.Ser1912Ter) c.4778C>A (p.Ser1593Ter) c.4769C>A (p.Ser1590Ter) | |
| 5 | g.37045494C>G | CA359504292 | NIPBL | c.6395C>G (p.Ser2132Ter) c.1-19084C>G (n.1-19084C>G) c.5651C>G (p.Ser1884Ter) c.6197C>G (p.Ser2066Ter) c.6014C>G (p.Ser2005Ter) c.5735C>G (p.Ser1912Ter) c.4778C>G (p.Ser1593Ter) c.4769C>G (p.Ser1590Ter) | |
| 5 | g.37045494C>T | CA359504294 | NIPBL | c.6395C>T (p.Ser2132Leu) c.1-19084C>T (n.1-19084C>T) c.5651C>T (p.Ser1884Leu) c.6197C>T (p.Ser2066Leu) c.6014C>T (p.Ser2005Leu) c.5735C>T (p.Ser1912Leu) c.4778C>T (p.Ser1593Leu) c.4769C>T (p.Ser1590Leu) | |
| 5 | g.37045495A>C | CA443906791 | NIPBL | c.6396A>C (p.Ser2132=) c.1-19083A>C (n.1-19083A>C) c.5652A>C (p.Ser1884=) c.6198A>C (p.Ser2066=) c.6015A>C (p.Ser2005=) c.5736A>C (p.Ser1912=) c.4779A>C (p.Ser1593=) c.4770A>C (p.Ser1590=) | gnomAD v4 |
| 5 | g.37045495A>G | CA443906793 | NIPBL | c.6396A>G (p.Ser2132=) c.1-19083A>G (n.1-19083A>G) c.5652A>G (p.Ser1884=) c.6198A>G (p.Ser2066=) c.6015A>G (p.Ser2005=) c.5736A>G (p.Ser1912=) c.4779A>G (p.Ser1593=) c.4770A>G (p.Ser1590=) | |
| 5 | g.37045495A>T | CA443906795 | NIPBL | c.6396A>T (p.Ser2132=) c.1-19083A>T (n.1-19083A>T) c.5652A>T (p.Ser1884=) c.6198A>T (p.Ser2066=) c.6015A>T (p.Ser2005=) c.5736A>T (p.Ser1912=) c.4779A>T (p.Ser1593=) c.4770A>T (p.Ser1590=) | |
| 5 | g.37045496C>A | CA359504298 | NIPBL | c.6397C>A (p.Leu2133Ile) c.1-19082C>A (n.1-19082C>A) c.5653C>A (p.Leu1885Ile) c.6199C>A (p.Leu2067Ile) c.6016C>A (p.Leu2006Ile) c.5737C>A (p.Leu1913Ile) c.4780C>A (p.Leu1594Ile) c.4771C>A (p.Leu1591Ile) | |
| 5 | g.37045496C>G | CA359504307 | NIPBL | c.6397C>G (p.Leu2133Val) c.1-19082C>G (n.1-19082C>G) c.5653C>G (p.Leu1885Val) c.6199C>G (p.Leu2067Val) c.6016C>G (p.Leu2006Val) c.5737C>G (p.Leu1913Val) c.4780C>G (p.Leu1594Val) c.4771C>G (p.Leu1591Val) | |
| 5 | g.37045496C>T | CA359504309 | NIPBL | c.6397C>T (p.Leu2133Phe) c.1-19082C>T (n.1-19082C>T) c.5653C>T (p.Leu1885Phe) c.6199C>T (p.Leu2067Phe) c.6016C>T (p.Leu2006Phe) c.5737C>T (p.Leu1913Phe) c.4780C>T (p.Leu1594Phe) c.4771C>T (p.Leu1591Phe) | |
| 5 | g.37045497T>A | CA359504311 | NIPBL | c.6398T>A (p.Leu2133His) c.1-19081T>A (n.1-19081T>A) c.5654T>A (p.Leu1885His) c.6200T>A (p.Leu2067His) c.6017T>A (p.Leu2006His) c.5738T>A (p.Leu1913His) c.4781T>A (p.Leu1594His) c.4772T>A (p.Leu1591His) | |
| 5 | g.37045497T>C | CA359504314 | NIPBL | c.6398T>C (p.Leu2133Pro) c.1-19081T>C (n.1-19081T>C) c.5654T>C (p.Leu1885Pro) c.6200T>C (p.Leu2067Pro) c.6017T>C (p.Leu2006Pro) c.5738T>C (p.Leu1913Pro) c.4781T>C (p.Leu1594Pro) c.4772T>C (p.Leu1591Pro) | |
| 5 | g.37045497T>G | CA359504317 | NIPBL | c.6398T>G (p.Leu2133Arg) c.1-19081T>G (n.1-19081T>G) c.5654T>G (p.Leu1885Arg) c.6200T>G (p.Leu2067Arg) c.6017T>G (p.Leu2006Arg) c.5738T>G (p.Leu1913Arg) c.4781T>G (p.Leu1594Arg) c.4772T>G (p.Leu1591Arg) | |
| 5 | g.37045498T>A | CA443906808 | NIPBL | c.6399T>A (p.Leu2133=) c.1-19080T>A (n.1-19080T>A) c.5655T>A (p.Leu1885=) c.6201T>A (p.Leu2067=) c.6018T>A (p.Leu2006=) c.5739T>A (p.Leu1913=) c.4782T>A (p.Leu1594=) c.4773T>A (p.Leu1591=) | |
| 5 | g.37045498T>C | CA3236998 | NIPBL | c.6399T>C (p.Leu2133=) c.1-19080T>C (n.1-19080T>C) c.5655T>C (p.Leu1885=) c.6201T>C (p.Leu2067=) c.6018T>C (p.Leu2006=) c.5739T>C (p.Leu1913=) c.4782T>C (p.Leu1594=) c.4773T>C (p.Leu1591=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37045498T>G | CA443906812 | NIPBL | c.6399T>G (p.Leu2133=) c.1-19080T>G (n.1-19080T>G) c.5655T>G (p.Leu1885=) c.6201T>G (p.Leu2067=) c.6018T>G (p.Leu2006=) c.5739T>G (p.Leu1913=) c.4782T>G (p.Leu1594=) c.4773T>G (p.Leu1591=) | |
| 5 | g.37045498T= | CA1539618503 | NIPBL | c.6399T= (p.Leu2133=) c.1-19080T= (n.1-19080T=) c.5655T= (p.Leu1885=) c.6201T= (p.Leu2067=) c.6018T= (p.Leu2006=) c.5739T= (p.Leu1913=) c.4782T= (p.Leu1594=) c.4773T= (p.Leu1591=) | |
| 5 | g.37045499C>A | CA359504325 | NIPBL | c.6400C>A (p.Leu2134Ile) c.1-19079C>A (n.1-19079C>A) c.5656C>A (p.Leu1886Ile) c.6202C>A (p.Leu2068Ile) c.6019C>A (p.Leu2007Ile) c.5740C>A (p.Leu1914Ile) c.4783C>A (p.Leu1595Ile) c.4774C>A (p.Leu1592Ile) | |
| 5 | g.37045499C= | CA1539618512 | NIPBL | c.6400C= (p.Leu2134=) c.1-19079C= (n.1-19079C=) c.5656C= (p.Leu1886=) c.6202C= (p.Leu2068=) c.6019C= (p.Leu2007=) c.5740C= (p.Leu1914=) c.4783C= (p.Leu1595=) c.4774C= (p.Leu1592=) | |
| 5 | g.37045499C>G | CA359504323 | NIPBL | c.6400C>G (p.Leu2134Val) c.1-19079C>G (n.1-19079C>G) c.5656C>G (p.Leu1886Val) c.6202C>G (p.Leu2068Val) c.6019C>G (p.Leu2007Val) c.5740C>G (p.Leu1914Val) c.4783C>G (p.Leu1595Val) c.4774C>G (p.Leu1592Val) | gnomAD v4 |
| 5 | g.37045499C>T | CA172746 | NIPBL | c.6400C>T (p.Leu2134=) c.1-19079C>T (n.1-19079C>T) c.5656C>T (p.Leu1886=) c.6202C>T (p.Leu2068=) c.6019C>T (p.Leu2007=) c.5740C>T (p.Leu1914=) c.4783C>T (p.Leu1595=) c.4774C>T (p.Leu1592=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37045500_37045503dup | CA645372767 | NIPBL | c.6401_6404dup (p.Pro2138GlnfsTer6) c.1-19078_1-19075dup (n.1-19078_1-19075dup) c.5657_5660dup (p.Pro1890GlnfsTer6) c.6203_6206dup (p.Pro2072GlnfsTer6) c.6020_6023dup (p.Pro2011GlnfsTer6) c.5741_5744dup (p.Pro1918GlnfsTer6) c.4784_4787dup (p.Pro1599GlnfsTer6) c.4775_4778dup (p.Pro1596GlnfsTer6) | ClinVar dbSNP |
| 5 | g.37045500T>A | CA359504329 | NIPBL | c.6401T>A (p.Leu2134Gln) c.1-19078T>A (n.1-19078T>A) c.5657T>A (p.Leu1886Gln) c.6203T>A (p.Leu2068Gln) c.6020T>A (p.Leu2007Gln) c.5741T>A (p.Leu1914Gln) c.4784T>A (p.Leu1595Gln) c.4775T>A (p.Leu1592Gln) | |
| 5 | g.37045500T>C | CA359504337 | NIPBL | c.6401T>C (p.Leu2134Pro) c.1-19078T>C (n.1-19078T>C) c.5657T>C (p.Leu1886Pro) c.6203T>C (p.Leu2068Pro) c.6020T>C (p.Leu2007Pro) c.5741T>C (p.Leu1914Pro) c.4784T>C (p.Leu1595Pro) c.4775T>C (p.Leu1592Pro) |